多酰基辅酶A脱氢缺陷症研究进展  

Advances in research on multiple acyl coenzyme A dehydrogenation deficiency

作　　者：崔文豪 瞿千千[1] 吕海东[1] CUI Wenhao;QU Qianqian;LYU Haidong(Jiaozuo People’s Hospital,Jiaozuo 454002,China)

机构地区：[1]焦作市人民医院,河南焦作454002

出　　处：《中国实用神经疾病杂志》2020年第7期641-F0003,共5页Chinese Journal of Practical Nervous Diseases

基　　金：河南省卫生科技创新型人才工程专项经费资助项目(编号:2010-10-18);焦作市科技计划经费资助项目(编号:焦科[2011]92)。

摘　　要：多酰基辅酶A脱氢缺陷(multiple acyl coenzyme A dehydrogenation deficiency,MADD)是一种影响脂肪酸、氨基酸及胆碱代谢的常染色体隐性遗传病,主要由电子转运黄素蛋白(ETF)或电子转运黄素蛋白脱氢酶(ETFDH)的基因突变所致。MADD主要临床表现为波动性肌无力和运动不能耐受,以肢体近端肌和颈伸肌无力为特征。由于MADD临床表型的异质性,使其早期很容易被误诊为多发性肌炎、重症肌无力、线粒体肌病等。肌肉活检和血尿生化检测有助于MADD的早期诊断,对阴性患者可进行MADD相关的基因检测。核黄素是目前MADD最有效的治疗药物。Multiple acyl coenzyme A dehydrogenation deficiency(MADD)is an autosomal recessively inherited disorder that affects the metabolism of fatty acid,amino acid and choline.It is mainly caused by mutations in the genes of electron transfer flavoprotein(ETF)or ETF dehydrogenase(ETFDH).The main clinical manifestations of MADD are fluctuating myasthenia and exercise intolerance,characterized by weakness of proximal limb muscles and cervical extensor muscles.Due to the heterogeneous clinical phenotype of MADD,it is easy to be misdiagnosed as polymyositis,myasthenia gravis and mitochondrial myopathy in the early stage.Muscle biopsy and biochemical detection of blood and urine are helpful for the early diagnosis of MADD,MADD-related genes tests can be performed on negative patients.Riboflavin is currently the most effective treatment for MADD.

关 键 词：多酰基辅酶A脱氢缺陷 戊二酸尿症Ⅱ型 电子转运黄素蛋白脱氢酶 核黄素 脂质沉积性肌病 

分 类 号：R596[医药卫生—内科学]